Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.020 1.000 2 2012 2015
dbSNP: rs2066826
rs2066826
4 0.851 0.160 1 186676795 intron variant C/T snv 0.14 0.19 0.020 1.000 2 2010 2015
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.020 1.000 2 2012 2018
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 1.000 2 2012 2018
dbSNP: rs200479241
rs200479241
3 0.882 0.080 1 186676073 missense variant T/C snv 2.1E-05 0.010 1.000 1 2012 2012